Screening for small bowel cancer in Lynch Syndrome by capsule endoscopy: announcement of a Dutch multi-centre study

J.H. Kleibeuker 1, J.J. Koornstra 1, H.F.A. Vasen 2,3

Department of Gastroenterology and Hepatology, University Medical Center Groningen1; The Netherlands Foundation for the detection of Hereditary Tumours, Leiden2;  Department of Gastroenterology, Leiden University Medical Center3

Background: Lynch Syndrome, or Hereditary Non Polyposis Colorectal Cancer (HNPCC), is caused by germline mutations in one of the mismatch repair genes. Small bowel cancer (SBC) is part of the tumour spectrum of patients with Lynch Syndrome. Mutation carriers have an estimated lifetime risk of around 4 % on the development of SBC, corresponding to a relative risk of over 100 compared to the general population. Screening for SBC in Lynch Syndrome has until now not been included in guidelines for surveillance, which may partly be due to the fact that, until recently, the possibilities for visualisation of the small bowel were limited. Recently, capsule endoscopy and double balloon enteroscopy were introduced, which allow for endoscopic access into the small bowel.

Methods/design: In a multi-centre study, with 8 Dutch hospitals participating, consenting asymptomatic carriers of a mismatch repair gene mutation, who are between 40 and 70 years of age, will undergo capsule endoscopy. If polyps are found with capsule endoscopy, double balloon enteroscopy will be performed, to obtain histological samples and remove the polyp endoscopically. If cancer is found with capsule endoscopy, patients will be referred for surgery. Two years after the initial capsule endoscopy, a repeat capsule endoscopy will be performed to determine the incidence of small bowel lesions.

Possible outcomes: this study will reveal the prevalence and incidence of small bowel lesions in patients with Lynch Syndrome. In addition, cost-effectiveness of this strategy to screen for small bowel neoplasia will be assessed. Finally, recommendations will be made regarding the value of surveillance of the small bowel in Lynch Syndrome.

Study support: this study will be supported by a grant from the Dutch Cancer Society and support from Given Imaging and Acertys.